Medical genetics Books

Book SynopsisOne of the world’s leading cultural psychologists debunks the hype surrounding DNA testing and puts to rest our mistaken anxieties about our genes.Trade Review"Steven Heine is one of the leading cultural psychologists in the world. In DNA Is Not Destiny, Heine serves as a trustworthy guide through the moral minefield of genetic differences and lays out a new way to think rationally about our genes." -- Jonathan Haidt, Thomas Cooley Professor of Ethical Leadership at New York University's Stern School of Business and author of The Righteous Mind "Steven Heine is one of the leading cultural psychologists in the world. In DNA Is Not Destiny, Heine serves as a trustworthy guide through the moral minefield of genetic differences and lays out a new way to think rationally about our genes." -- Jonathan Haidt, Thomas Cooley Professor of Ethical Leadership at New York University's Stern School of Business and author of The Righteous Mind "At some point everyone wonders: 'Who am I and where did I come from?' Is there any question more fascinating? In this important book, Steve Heine tells us what our DNA can and cannot reveal about our nature, our origins, and our futures. The material is fascinating, and Heine's vibrant writing makes it come alive with personal significance for every reader." -- Carol Dweck, Lewis and Virginia Eaton Professor of Psychology at Stanford University and author of Mindset "At some point everyone wonders: 'Who am I and where did I come from?' Is there any question more fascinating? In this important book, Steve Heine tells us what our DNA can and cannot reveal about our nature, our origins, and our futures. The material is fascinating, and Heine's vibrant writing makes it come alive with personal significance for every reader." -- Carol Dweck, Lewis and Virginia Eaton Professor of Psychology at Stanford University and author of Mindset "Your genes contribute to your beliefs, behaviors, and life outcomes. Only in rare cases are they determinative. This brilliant, invaluable book sets straight crucial matters of heredity and environment and their interaction-and does so in lively and lucid prose." -- Richard Nisbett, Theodore M. Newcomb Distinguished Professor of Social Psychology at the University of Michigan and author of Mindware "Your genes contribute to your beliefs, behaviors, and life outcomes. Only in rare cases are they determinative. This brilliant, invaluable book sets straight crucial matters of heredity and environment and their interaction-and does so in lively and lucid prose." -- Richard Nisbett, Theodore M. Newcomb Distinguished Professor of Social Psychology at the University of Michigan and author of Mindware "A highly accessible and entertaining guide to genes: what they are, how they work, and most important, what they can and cannot explain. For all the dinner table or classroom conversations on the genetic bases of gender, race, or intelligence; the morality of genetic engineering; or the hardest question of all, 'Who am I?,' DNA Is Not Destiny is the new must-read." -- Hazel Markus, Davis-Brack Professor in the Behavioral Sciences at Stanford University and author of Clash!: How to Thrive in a Multicultural World "A highly accessible and entertaining guide to genes: what they are, how they work, and most important, what they can and cannot explain. For all the dinner table or classroom conversations on the genetic bases of gender, race, or intelligence; the morality of genetic engineering; or the hardest question of all, "Who am I?," DNA Is Not Destiny is the new must-read." -- Hazel Markus, Davis-Brack Professor in the Behavioral Sciences at Stanford University and author of Clash!: How to Thrive in a Multicultural World "Heine ranges broadly, discussing both historical and ethical concerns, and draws heavily on social science research to investigate how people's beliefs about the power of genes influence their behavior. Heine also makes a strident critique of the direct-to-consumer genetic testing industry and a robust defense of most genetically modified organisms... Enjoyable and informative." -- Publishers Weekly "An accessible contribution to what the author calls 'genetic literacy' and a satisfyingly hard-edged work of popular science." -- Kirkus Reviews

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Book SynopsisGoodbye, genetic blueprint. . . . The first book for general readers on the game-changing field of epigenetics.Trade Review"Epigenetics explains all this in clear, no-nonsense prose. . . . One particularly excellent chapter explains epigenetic change through the body of steroid-addled baseball player José Canseco, from his brain to his testicles." -- Josh Rothman - Boston Globe"Francis’s primer introduces a new field. It’s a thorough guide to the many ways in which personality and health can play out through our genes but not be coded for in DNA." -- Christine Kenneally - Slate

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Book SynopsisOne of the world’s leading cultural psychologists debunks the hype surrounding DNA testing and puts to rest our mistaken anxieties about our genes.

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Book SynopsisThis fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions.Table of ContentsPreface vii How to get the best out of your textbook viii PART ONE: BASIC PRINCIPLES OF HUMAN GENETICS 1 1 DNA Structure and Function 3 2 Genetic Variation 20 3 Patterns of Inheritance 38 4 The Human Genome 64 5 Multifactorial Inheritance 87 6 Cell Division and Chromosomes 100 7 Population Genetics 125 8 Cancer Genetics 137 PART TWO: GENETICS AND GENOMICS IN MEDICAL PRACTICE 155 9 Chromosome Translocation 157 10 Molecular Diagnosis 171 11 Newborn Screening 182 12 Developmental Genetics 194 13 Carrier Screening 203 14 Genetic Risk Assessment 213 15 Genetic Testing for Risk of Cancer 222 16 Pharmacogenetics 230 17 Treatment of Genetic Disorders 239 Answers to Review Questions 248 Glossary 253 Index 262

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Book SynopsisPharmacogenomics is the process of analyzing patients' genes to predict the onset of adverse reactions or forecast the effectiveness of therapeutic drugs. This useful text is written to discuss both the theory and the clinical application of the principles of pharmacogenomics.Trade Review“This book is unique in its focus on the application of pharmacogenomics in clinical therapeutics.” (Doody’s, 19 January 2013) Table of ContentsList of Contributors, vii Preface, ix 1 Pharmacogenomics Principles: Introduction to Personalized Medicine, 1 Parvaz Madadi, PhD and Gideon Koren, MD 2 Traditional Therapeutic Drug Monitoring and Pharmacogenomics: Are They Complementary? 15 Christine L.H. Snozek, PhD, Loralie J. Langman, PhD, and Amitava Dasgupta, Ph.D 3 Pharmacogenomics Aspect of Warfarin Therapy, 26 Matthew D. Krasowski, MD, PhD 4 Pharmacogenetics and Cancer Chemotherapy, 39 Christine L.H. Snozek 5 Pharmacogenomic Considerations in Anesthesia and Pain Management, 53 Christine M. Formea, PharmD and Wayne T. Nicholson, MD, PharmD 6 Pharmacogenomics of Immunosuppressants, 70 Nicolas Picard, PharmD, PhD and Pierre Marquet, MD, PhD 7 Pharmacogenomics of Cardiovascular Drugs, 98 Linnea M. Baudhuin, PhD 8 Pharmacogenomic Aspects of Antiretroviral Therapy, 127 Natella Y. Rakhmanina, MD, PhD and John N. van den Anker, MD, PhD 9 Pharmacogenetics of Psychoactive Drugs, 144 Jorge L. Sepulveda, MD, PhD 10 Pharmacogenomic Aspects of Adverse Drug–Drug Interactions, 176 Loralie J. Langman, PhD and Christine L.H. Snozek, PhD 11 Microarray Technology and Other Methods in Pharmacogenomics Testing, 185 Jorge L. Sepulveda, MD, PhD 12 Pharmacogenetic Testing in the Clinical Laboratory Environment, 201 Mark P. Borgman, PhD and Mark W. Linder, PhD Index, 225

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Book SynopsisThis is a completely revised edition of a comprehensive and popular introduction to the fast moving area of Forensic Genetics. The text begins with key concepts needed to fully appreciate the subject and moves on to examine the latest developments in the field. Now illustrated in full colour throughout, this accessible textbook includes numerous references to relevant casework. With information on the full process of DNA evidence from collection at the scene of a crime to presentation in a legal context this book provides a complete overview of the field. Key Features: Greater in-depth coverage of kinship problems now covered in two separate chapters: one dealing with relationships between living individuals and the other covering identification of human remains. New chapter on non-human forensic genetics, including identification of bacteria and viruses, animals and plants. Self assessment questions to aid student understanding throughout tTable of ContentsForeword ix Preface xi Preface to first edition xiii 1 Introduction to forensic genetics 1 Forensic genetics 1 A brief history of forensic genetics 2 References 6 2 DNA structure and the genome 11 DNA structure 11 Organization of DNA into chromosomes 11 The structure of the human genome 13 Genetic diversity of modern humans 15 The genome and forensic genetics 16 Tandem repeats 16 Single nucleotide polymorphisms 18 References 19 3 Biological material – collection, characterization and storage 21 Sources of biological evidence 21 Collection and handling of material at the crime scene 23 Identification and characterization of biological evidence 23 Evidence collection 29 Sexual and physical assault 31 Storage of biological material 32 References 32 4 DNA extraction and quantification 37 DNA extraction 37 General principles of DNA extraction 37 DNA extraction from challenging samples 41 Quantification of DNA 45 DNA IQ system 48 References 49 5 Polymerase chain reaction 53 The evolution of PCR-based profiling in forensic genetics 53 DNA replication: the basis of the PCR 54 The components of PCR 54 Taq DNA polymerase 54 The PCR process 56 PCR inhibition 58 Sensitivity and contamination 60 The PCR laboratory 60 Further reading 62 References 62 6 The analysis of short tandem repeats 67 Structure of STR loci 67 The development of STR multiplexes 67 Detection of STR polymorphisms 70 Interpretation of STR profiles 72 Further reading 77 References 77 7 Assessment of STR profiles 81 Stutter peaks 81 Split peaks (±N) 81 Pull-up 83 Template DNA 84 Overloaded profiles 84 Low template DNA typing 84 Peak balance 86 Mixtures 86 Degraded DNA 88 PCR inhibition 90 References 91 8 Statistical interpretation of STR profiles 95 Population genetics 95 Deviation from the Hardy–Weinberg equilibrium 96 Statistical tests to determine deviation from the Hardy–Weinberg equilibrium 97 Estimating the frequencies of STR profiles 98 Corrections to allele frequency databases 98 Which population frequency database should be used? 103 Conclusions 104 Further reading 104 References 104 9 Evaluation and presentation of DNA evidence 107 Hierarchies of propositions 107 Likelihood ratios 109 Two fallacies 113 Comparison of three approaches 114 Further reading 115 References 115 10 Databases of DNA profiles 117 The UK National DNA Database 117 International situation 124 Further reading 128 References 128 11 Kinship testing 131 Parentage testing 131 Punnett square 132 Identification of human remains 139 Further reading 140 References 140 12 Single nucleotide polymorphisms 145 SNPs – occurrence and structure 145 Detection of SNPs 146 SNP detection for forensic applications 148 Forensic applications of SNPs 149 SNPs compared with STR loci 150 References 152 13 Lineage markers 155 Mitochondria 155 Applications of mtDNA profiling 157 Haplotypes and haplogroups 159 The Y chromosome 161 Forensic applications of Y chromosome polymorphisms 162 Further reading 165 References 165 14 Non-human DNA typing 171 Non-human sample types 171 Species identification 173 Linkage to an individual using STR loci 174 Linkage to an individual using mitochondrial loci 175 Microbial DNA testing 176 Concluding comments 176 Further reading 176 References 176 Appendix A Forensic parameters 181 Appendix B Useful web links 183 Glossary 185 Abbreviations 189 Index 193

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Book SynopsisHuman Drug Metabolism, An Introduction, Second Edition provides an accessible introduction to the subject and will be particularly invaluable to those who already have some understanding of the life sciences. Completely revised and updated throughout, the new edition focuses only on essential chemical detail and includes patient case histories to illustrate the clinical consequences of changes in drug metabolism and its impact on patient welfare. After underlining the relationship between efficacy, toxicity and drug concentration, the book then considers how metabolizing systems operate and how they impact upon drug concentration, both under drug pressure and during inhibition. Factors affecting drug metabolism, such as genetic polymorphisms, age and diet are discussed and how metabolism can lead to toxicity is explained. The book concludes with the role of drug metabolism in the commercial development of therapeutic agents as well as the pharmacology of some illicit drugs.<Trade ReviewReviews of first edition: "The author has certainly achieved his goal of providing an accessible introduction to human drug metabolism" (The Annals of Pharmacotherapy, June 2006) "Armed with the knowledge contained in this book, we should all be well on the way" (Pharmaceutical Physician, May 2006) "…a useful introductory text for the intended audience of students studying pharmacology and toxicology…" (Veterinary Pathology, November 2006)Table of ContentsPreface. Preface to First Edition. 1. Introduction. 1.1 Therapeutic window. 1.2 Consequences of drug concentration changes. 1.3 Clearance. 1.4 Hepatic extraction and intrinsic clearance. 1.5 First pass and plasma drug levels. 1.6 Drug and xenobiotic metabolism. 2. Drug Biotransformational Systems – Origins and Aims. 2.1 Biotransforming enzymes. 2.2 Threat of lipophilic hydrocarbons. 2.3 Cell communication. 2.4 Potential food toxins. 2.5 Sites of biotransforming enzymes. 2.6 Biotransformation and xenobiotic cell entry. 3. How Oxidative Systems Metabolize Substrates. 3.1 Introduction. 3.2 Capture of lipophilic molecules. 3.3 Cytochrome P450s classification and basic structure. 3.4 CYPs – main and associated structures. 3.5 Human CYP families and their regulation. 3.6 Main human CYP families. 3.7 Cytochrome P450 catalytic cycle. 3.8 Flavin monooxygenases (FMOs). 3.9 How CYP isoforms operate in vivo. 3.10 Aromatic ring hydroxylation. 3.11 Alkyl oxidations. 3.12 ‘Rearrangement’ reactions. 3.13 Other oxidation processes. 3.14 Control of CYP metabolic function. 4. Induction of Cytochrome P450 Systems. 4.1 Introduction. 4.2 Causes of accelerated clearance. 4.3 Enzyme induction. 4.4 Mechanisms of enzyme induction. 4.5 Induction – general clinical aspects. 5. Cytochome P450 Inhibition. 5.1 Introduction. 5.2 Inhibition of metabolism – general aspects. 5.3 Mechanisms of inhibition. 5.4 Cell transport systems and inhibition. 5.5 Major clinical consequences of inhibition of drug clearance. 5.6 Use of inhibitors for positive clinical intervention. 5.7 Summary. 6. Conjugation and Transport Processes. 6.1 Introduction. 6.2 Glucuronidation. 6.3 Sulphonation. 6.4 The GSH system. 6.5 Glutahione S-transferases. 6.6 Epoxide hydrolases. 6.7 Acetylation. 6.8 Methylation. 6.9 Esterases/amidases. 6.10 Amino acid conjugation (glycine or glutamate). 6.11 Phase III transport processes. 6.12 Biotransformation-integration of processes. 7. Factors Affecting Drug Metabolism. 7.1 Introduction. 7.2 Genetic polymorphisms. 7.3 Effects of age on drug metabolism. 7.4 Effects of diet on drug metabolism. 7.5 Gender effects. 7.6 Smoking. 7.7 Effects of ethanol on drug metabolism. 7.8 Artificial livers. 7.9 Effects of diseases on drug metabolism. 9.10 Summary. 8. Role of Metabolism in Drug Toxicity. 8.1 Adverse drug reactions: definitions. 8.2 Reversible drug adverse effects: Type A. 8.3 Irreversible drug toxicity: Type B. 8.4 Type B1 necrotic reactions. 8.5 Type B2 reactions: immunotoxicity. 8.6 Type B3 reactions: role of metabolism in cancer. 8.7 Summary of biotransformational toxicity. Appendix A: Methods in Drug Metabolism. A.1 Introduction. A.2 Analytical techniques. A.3 Human liver microsomes. A.4 Human hepatocytes. A.5 Human cell lines. A.6 Heterologous recombinant systems. A.7 Animal model developments in drug metabolism. A.8 Toxicological metabolism-based assays. A.9 In silico studies. A.10 Summary. Appendix B. Metabolism of Major Illicit Drugs. B.1 Introduction. B.2 Opiates. B.3 Cocaine. B.4 Hallucinogens. B.5 Amphetamines. B.6 Cannabis. B.7 Dissociative anaesthetics. Appendix C. Examination Techniques. C.1 Introduction. C.2 A first-class answer. C.3 Preparation. C.4 The day of reckoning. Appendix D. Summary of Major CYP Isoforms and their Substates, Inhibitors and Inducers. Suggested Further Reading. Index.

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Book SynopsisMolecular Analysis and Genome Discovery, Second Edition is a completely revised and updated new edition of this successful book. The text provides a comprehensive overview of recent developments in the fast moving field of molecular based diagnostics of disease markers. Key concepts and applications are provided alongside practical information on current techniques currently being researched and developed. Each chapter offers an up-to-date analysis of the subject encompassing the very latest technology platforms and is an essential reference for researchers in the field looking for an up-to-date overview of the subject. The book will also be an indispensable resource for those working in the biotechnology and pharmaceutical industries. New for this edition: chapters on Genotyping through Mutation Detection; Differential Gene Expression; Haplotyping and Molecular Profiling.Trade Review“It will be of immense value to students, biotechnologists, and scientists in the pharmaceutical industry. This update absolutely justifies replacement of the first edition.” (Doody’s, 24 August 2012)Table of ContentsPreface ix Contributors xi 1 Overview of Genotyping 1 Monica Bayes and Ivo Glynne Gut Introduction 1 Methods for interrogating SNPs 3 Commercial platforms for SNP genotyping 7 Practical recommendations 11 SNP databases 14 Methylation analysis 15 Copy number variation analysis 16 Second generation sequencing technologies 17 Conclusions 18 References 19 2 DNA Chip Analysis in Genome Discovery 24 Ross N. Nazar and Jane Robb Introduction 24 Interrogating a genome 25 Cross-species hybridization 28 Comparative genomic hybridization and microarray-based genotyping 31 Barcodes, DNA microarrays and organism identification 34 Concluding remarks 36 References 37 3 qPCR, Theory, Reliability and Use in Molecular Analysis 43 Jamie Murphy and Stephen A. Bustin Sample preparation 44 RNA quality 45 Reagents 46 Assay design 47 Transparency of published data 51 Further considerations 52 Conclusion 52 References 52 4 DNA Analysis in Droplet-Based Microfluidic Devices 56 Pinar Ozdemir and Yonghao Zhang Introduction 56 Continuous-flow microPCR chips 58 PCR inhibition and carryover contamination 62 PCR in droplets 65 Conclusions 73 References 75 5 High-Resolution Melt Profiling 81 Steven F. Dobrowolski and Carl T. Wittwer Introduction 81 Basic concepts of melt profiling 82 HRMP and polymerase chain reaction 84 DNA specimens and HRMP 89 Determining a temperature window for melting 90 Dyes and platforms for melt profiling 92 Scanning PCR products for sequence variation 93 Genotyping with high-resolution melt profiling 102 Other applications of HRMP 108 Final notes 109 References 110 6 Massively Parallel Sequencing 114 Tracy Tucker, Marco Marra and Jan M. Friedman Sanger sequencing 114 Massively parallel sequencing 114 Commercially available massively parallel sequencers 115 Future technologies 122 Paired-end or mate-paired reads 123 Target-enrichment strategies for MPS 124 Applications of MPS 125 Summary 131 References 132 7 Aptamers for Analysis: Nucleic Acids Ligands in the Post-Genomic Era 135 Pedro Nadal, Alessandro Pinto, Marketa Svobodova and Ciara K. O'Sullivan Introduction 135 SELEX 136 Aptamers in analysis 147 Imaging with aptamers 157 Conclusions, outlooks and perspectives 160 References 161 8 Use of Nanotechnology for Enhancing of Cancer Biomarker Discovery and Analysis: A Molecular Approach 175 Farid E. Ahmed Introduction 175 Proteomics and nanotechnology 176 Nanoscale multicomponent separation 176 Nanoscale protein detection strategies 178 Surface-enhanced Raman scattering (SERS) 182 References 188 9 Chip-Based Proteomics 193 Julian Bailes, Andrew Milnthorpe, Sandra Smieszek and Mikhail Soloviev Introduction 193 Lab-on-a-chip 194 Arrays 196 Chip-based mass spectrometry 203 Surface plasmon resonance (SPR) and quartz crystal microbalance (QCM) chip instruments 205 Microfluidics 207 Conclusion 209 References 211 10 Antibody Microarrays in Proteome Profiling 219 Mohamed Saiel Saeed Alhamdani and Jorg D. Hoheisel Introduction 219 Technical aspects 220 Antibody array applications 226 Summary 229 Acknowledgements 229 References 229 11 Biomarker Detection and Molecular Profiling by Multiplex Microbead Suspension Array Based Immunoproteomics 244 V. V. Krishhan, Imran H. Khan and Paul A. Luciw Introduction 244 Principles of microbead-based multiplexing 245 Experimental aspects of the multiplex microbead assay 247 Multiplex microbead assay design and comparison with other methods 250 Applications of the multiplex microbead assay system for biomedical research and clinical studies 252 Selected investigational fields for multiplex analysis and examples of applications 255 Challenges and current limitations 255 Summary and future directions 259 Acknowledgements 261 References 261 12 Mass Spectrometry in Metabolomics 271 William J. Griffiths and Yuqin Wang Introduction 271 Sample collection and preparation 272 Data acquisition 274 Data analysis 279 Applications 283 Conclusion 294 Acknowledgement 294 References 295 Index 299

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Book SynopsisSets the foundation for safer, more effective drug therapies With this book as their guide, readers will discover how to apply our current understanding of the pharmacogenomics of drug transporters to advance their own drug discovery and development efforts. In particular, the book explains how new findings in the field now enable researchers to more accurately predict drug interactions and adverse drug reactions. Moreover, it sets the foundation for the development of drug therapies that are tailored to an individual patient''s genetics. Pharmacogenomics of Human Drug Transporters serves as a comprehensive guide to how transporters regulate the absorption, distribution, and elimination of drugs in the body as well as how an individual''s genome affects those processes. The book''s eighteen chapters have been authored by a team of leading pioneers in the field. Based on their own laboratory and clinical experience as well as a thorough review of the literTable of ContentsPREFACE vii CONTRIBUTORS ix CHAPTER 1 INTRODUCTION TO PHARMACOGENOMICS OF DRUG TRANSPORTERS 1 Marianne K. DeGorter and Richard B. Kim CHAPTER 2 ADME PHARMACOGENOMICS IN DRUG DEVELOPMENT 13 Liangfu Chen and Joseph W. Polli CHAPTER 3 REGULATORY PERSPECTIVE ON PHARMACOGENOMICS OF DRUG-METABOLIZING ENZYMES AND TRANSPORTERS 39 Lei Zhang, Gilbert J. Burckart, Lawrence J. Lesko and Shiew-Mei Huang CHAPTER 4 THE PHARMACOGENOMICS OF MEMBRANE TRANSPORTERS PROJECT 73 Sook Wah Yee, Deanna L. Kroetz and Kathleen M. Giacomini CHAPTER 5 EMERGING NEW TECHNOLOGY OF SNP TYPING 109 Toshihisa Ishikawa and Yoshihide Hayashizaki CHAPTER 6 OATP1A2, OAT1, AND OAT3 125 Rommel G. Tirona CHAPTER 7 OATP1B1, OATP1B3, AND OATP2B1 141 J¨org K¨onig and Martin F. Fromm CHAPTER 8 OCT (SLC22A) AND OCTN FAMILY 171 Sophie L. Stocker, Arian Emami Riedmaier, Matthias Schwab and Kathleen M. Giacomini CHAPTER 9 MATE (SLC47) FAMILY 209 Atsushi Yonezawa and Ken-ichi Inui CHAPTER 10 PEPT (SLC15A) FAMILY 223 Tomoko Sugiura, Saki Umeda, Akira Tsuji and Yukio Kato CHAPTER 11 NUCLEOSIDE TRANSPORTERS (SLC28 AND SLC29) FAMILY 243 M´ýriam Molina-Arcas and Marc¸al Pastor-Anglada CHAPTER 12 P-GLYCOPROTEIN (MDR1/ABCB1) 271 Ingolf Cascorbi CHAPTER 13 BSEP (ABCB11) 295 Bruno Stieger and Gerd A. Kullak-Ublick CHAPTER 14 BCRP (ABCG2) 311 Agnes Basseville, Susan E. Bates, William D. Figg and Alex Sparreboom CHAPTER 15 MRP2 (ABCC2) AND MRP3 (ABCC3) 345 Anne T. Nies CHAPTER 16 MRP4 (ABCC4) 365 Satish B. Cheepala, Mugdha Sukthankar and John D. Schuetz CHAPTER 17 MRP8 (ABCC11) 387 Yu Toyoda and Toshihisa Ishikawa CHAPTER 18 FUTURE PERSPECTIVES 401 Toshihisa Ishikawa and Joseph Ware INDEX 417

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Book SynopsisWritten by a team of international experts, this book provides an authoritative overview and practical guide to the molecular biology and genetic basis of haematologic cancers including leukemia.Table of ContentsList of contributors xi Preface xiii 1 The myelodysplastic syndromes 1 Cristina Mecucci, Valeria Di Battista and Valeria Nofrini Introduction 1 Predisposing conditions 2 Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) 2 Severe congenital neutropenia (SCN) 5 Poikiloderma with neutropenia 6 Familial MDS/AML 6 Shwachman–Diamond syndrome (SDS) 7 Dyskeratosis congenita (DKC) and telomere syndromes 8 Fanconi anaemia (FA) 11 Down syndrome 12 Cytogenetics 12 Loss of Y chromosome (–Y) and del(11q) 13 Del(20q) 15 idic(X)(q13) 15 Del(17)(p13)/i(17q) 15 Del(12p) 16 Trisomy 8 16 Rare trisomies: +6, +13, +14, +15, +16, +19, +21 16 Monosomy 7 and del(7q) 17 Rare monosomies 19 Unbalanced translocations involving 1q 19 t(17;18)(p10;q10) 20 Rare or sporadic balanced translocations 20 Complex karyotypes 22 Chromosome 5q deletions 23 Somatic mutations 31 Oncogenes and tumour suppressor genes 31 Mutations of genes involved in epigenetic modulation 39 Mutations of genes involved in the spliceosome machinery 45 Rare gene mutations in myelodysplastic syndromes 48 Epigenetics 49 DNA methylation 50 Histone modifications 52 RNA 53 Conclusion 54 References 54 2 Molecular genetics of the myeloproliferative neoplasms 80 Philip A. Beer Introduction 80 Overview of the different types of mutation found in MPN patients 80 Acquired mutations in cytokine signalling pathways 82 Acquired mutations in pathways controlling transcriptional regulation 84 Acquired mutations associated with transformation to advanced-phase disease 87 Inherited predisposition to clonal MPNs 87 Inherited non-clonal disorders that phenocopy distinct MPNs 87 Polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) 88 Acquired mutations in cytokine signalling pathways (Table 2.3) 89 Acquired mutations in pathways controlling transcriptional regulation (Table 2.4) 95 Acquired mutations associated with progression to advanced and blastic-phase disease 101 Inherited predisposition to clonal MPNs 103 Inherited non-clonal disorders that phenocopy distinct MPNs 104 Principles and clinical utility of laboratory testing 107 Chronic eosinophilic leukaemia 109 Acquired mutations in cytokine signalling pathways 109 Acquired mutations in pathways controlling transcriptional regulation 113 Acquired mutations associated with progression to advanced and blastic-phase disease 113 Inherited predisposition to clonal MPNs 113 Inherited non-clonal disorders that phenocopy distinct MPNs 114 Principles and clinical utility of laboratory testing 114 Neoplastic mast cell disease 115 Acquired mutations in cytokine signalling pathways 116 Acquired mutations in pathways controlling transcriptional regulation 118 Acquired mutations associated with progression to advanced and blastic-phase disease 118 Inherited predisposition to clonal MPNs 119 Inherited non-clonal disorders that phenocopy distinct MPNs 119 Principles and clinical utility of laboratory testing 120 References 121 3 Acute myeloid leukaemia 133 Matthew L. Smith and Thomas McKerrell Introduction 133 AML classification 134 Cytogenetic aberrations 135 Fusion genes arising from structural rearrangements 135 Monosomies 148 Complex and monosomal karyotypes 148 Trisomies 148 Double minute chromosomes 151 Normal karyotype – is it really normal? 151 Altered gene expression 152 EVI1 152 BAALC 153 MN1 153 ERG 154 SET 154 BRE 154 WT1 154 miRNA genes 154 Diagnosis and classification of AML 155 Current risk stratification of AML patients: European LeukemiaNet (ELN) guidelines 156 Therapeutic regimens in AML 158 Management of younger adults aged 18–60 years 159 Older AML patients (aged >60 years) 159 Novel agents 160 Monitoring response to therapy (MRD) 160 The genomics of AML 161 Clonal evolution of AML 161 Established recurrent mutations in AML 163 Novel recurrent mutations in AML 173 Emerging concepts and future directions 179 Age-related clonal haematopoiesis (ARCH) 179 Application of genomic technologies to the diagnosis of AML 179 Conclusion 181 Mini-glossary 183 References 184 4 Molecular genetics of paediatric acute myeloid leukaemia 203 Marry van den Heuvel-Eibrink, Jasmijn D.E. de Rooij and Christian Michel Zwaan Clinical introduction 203 Epidemiology of AML 203 Diagnostic approach 204 Treatment and outcome 205 Relevant molecular and genetic aberrations in paediatric AML 206 Type I/II aberrations and their non-random associations 206 Relevance of type I/II aberrations for outcome and stratification of paediatric AML treatment 209 Epigenetic modifiers and hydroxymethylation pathway mutations 212 Further strategies 213 Further genomic approaches to unravelling the biology of paediatric AML 213 Molecularly targeted therapy 214 Conclusion 215 References 215 5 Acute lymphoblastic leukaemia 223 Anna Andersson, Anthony V. Moorman, Christine J. Harrison and Charles Mullighan Introduction 223 Chromosomal aberrations in BCP-ALL 224 High hyperdiploidy 227 t(12;21)(p13;q22)/ETV6-RUNX1 232 t(1;19)(q23;p13)/TCF3-PBX1 233 t(17;19)(q22;p13)/TCF3-HLF 234 Hypodiploidy 234 11q23/KMT2A (MLL) gene rearrangements 236 t(9;22)(q34;q11.1)/BCR-ABL1 237 Intrachromosomal amplification of chromosome 21 (iAMP21) 238 Complex karyotype 239 Submicroscopic genetic alterations in BCP-ALL 240 Alteration of transcription factors in BCP-ALL 241 CRLF2 rearrangements and Janus kinase mutations in ALL 242 BCR-ABL1-like or Ph-like ALL 243 ERG-altered ALL 245 Genetic rearrangements in T-lineage ALL 245 TAL1/LMO2 rearranged T-ALL 247 TLX1/TLX3 rearranged T-ALL 248 Early T-cell precursor ALL 249 Other T-ALL genetic subtypes: MLL rearranged and PICALM-MLLT10 250 Relapsed ALL 251 Future directions 252 References 252 6 The genetics of mature B-cell malignancies 265 Jonathan C. Strefford, Jude Fitzgibbon, Matthew J.J. Rose-Zerilli and Csaba Bödör Introduction 265 Chronic lymphocytic leukaemia 266 Immunoglobulin heavy-chain variable region gene mutational status 267 Chromosomal banding and interphase molecular cytogenetics 268 Copy number alterations 269 Deletions of 13q14 269 Trisomy 12 272 Deletions of 11q24 and mutations of ATM 273 Deletions of 17p13 and mutations of TP53 275 Other copy number alterations in CLL 276 Genome complexity and chromothripsis 277 Novel mutations in patients with CLL 279 NOTCH1 280 SF3B1 281 Other genes 282 Novel genetic mutations in clinical practice 282 Germinal centre lymphomas 284 Follicular lymphoma 286 Diffuse large B-cell lymphoma 293 Conclusions and future perspectives 296 Acknowledgements 299 References 299 7 The genetics of chronic myelogenous leukaemia 312Philippa C. May, Jamshid S. Khorashad, Mary Alikian, Danilo Perrotti and Alistair G. Reid Introduction 312 Clinical features 313 The structure and physiological function of BCR and ABL1 316 The structure of the BCR-ABL1 fusion gene 317 Mechanisms of BCR-ABL1-induced oncogenesis 319 Potential mechanisms underlying the genesis of CML 320 CML blast crisis transformation 321 Tyrosine kinase inhibitor (TKI) therapy 325 The genetic basis of TKI resistance 326 Novel therapeutic approaches 330 Genetics in patient management 332 Cytogenetic and molecular cytogenetic monitoring 332 Quantitative reverse transcriptase polymerase chain reaction (RT-qPCR) 334 BCR-ABL1 mutation analysis 337 Conclusion 338 References 339 Index 359

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Book SynopsisThis comprehensive guide helps health care professionals use genetics in managing patients at risk for, or already diagnosed with, common cancers. It offers health care professionals a framework for counseling patients, families, and colleagues about the availability, benefits, and limitations of the new technologies for genetic risk assessment.Trade Review"I refer to [this book] frequently and almost feel as if Dr. Offit was in the consulting room. I urge oncologists and other professionals providing cancer risk counseling to read this book and keep it at hand for convenient reference." (Annals of Oncology) "This is an excellent textbook ... it will be on my list of recommended reading for students...." (Human Genetics, May 2000) "This is an excellent textbook encompassing a wealth of experience." (Human Genetics, No. 106, 2000)Table of ContentsClinical Cancer Genetics and Risk Counseling. Hereditary and Acquired Risks for Cancer. Cancer as a Genetic Disorder. The Common Hereditary Cancers. Other Cancer Predisposition Syndromes. Quantitative Methods in Cancer Risk Assessment. Laboratory Methods of Cancer Genetic Testing. Genetic Testing in the Management of Patients with Cancer. Reproductive Counseling for Cancer Patients and Families. Psychological, Ethical, and Legal Issues of Cancer Risk Counseling. Glossary. Appendices. Index.

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Book SynopsisPresents stem cells and gene therapy together in one comprehensive volume. it also addresses the major advances in stem cell biology research and the many applications of this research in the development of novel molecular therapies.Table of ContentsStem Cell Systems: Basic Principles and Methodologies (S. Nilsson & P. Quesenberry). Cytokine/Growth Factor Responsiveness of Early Hemopoietic Progenitor Cells (A. Burgess). Molecular Mechanisms Controlling the Cell Cycle and Proliferation-Differentiation Interrelationships (G. Stein, et al.). Stem Cell Transcription (S. Weissman & A. Perkins). Hematopoietic Stem Cells: Proliferation, Purification and Clinical Applications (R. Pettengell & M. Moore). Delivery Systems for Gene Therapy: The Adenovirus (T. Shenk). Gene Transfer to Muscle and Spinal Cord Using Herpes Simplex Virus-Based Vectors (J. Huard, et al.). Herpes Virus Vectors (X. Breakefield, et al.). Delivery Systems for Gene Therapy: Adeno-Associated Virus (G. Kroner-Lux, et al.). Delivery Systems for Gene Therapy: Adeno-Associated Virus 2 (A. Srivastava). Ribozyme Gene Therapy Targeting Stem Cells for Human Immunodeficiency Virus Infection (A. Ho, et al.). Elements of DNA Vaccine Design (M. Caufield & M. Liu). Development of Gene Therapy for Gaucher Disease (J. Barranger, et al.). Clinical Applications of Gene Therapy: Correction of Genetic Disease Affecting Hematopoietic Cells (J. Medin, et al.). Gene Therapy for Hemophilia (K. High). Clinical Applications of Gene Therapy: Anemias (G. Atweh & B. Forget). Clinical Applications of Gene Therapy in Cancer: Modification of Sensitivity to Therapeutic Agents (T. Licht, et al.). Clinical Applications of Gene Therapy: Brian Tumors (K. Culver & J. Van Gilder). Clinical Applications of Gene Therapy: Cardiovascular Disease (J. Fox). Applications of Gene Therapy to Neurological Diseases and Injuries (D. Choi-Lundberg & M. Bohn). Index.

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Book SynopsisThis book examines the ethical, legal, and social implication of pharmacogenomics. Through analyses of the complex underlying issues, this interdisciplinary volume frames the agenda for dealing with genetic variation and incorporating pharmacogenomics into health care.Trade Review"The discussion of societal, legal, economic, and governmental issues go well beyond the sphere of pharmogenomics." (American Journal for Medical Genetics, September 1, 2005) "...indispensable guide...as timely as it can be...an impressive multidisciplinary analysis...a 'must read'..." (Bioethics, Vol 18(4), August 2004) "…Pharmacogenomics is highly recommended for anyone with an interest in the field…. Given this book's uniqueness…libraries at any institution teaching pharmcogenomics should have a copy of this book.” (Journal of Pharmacy Technology, Sept/Oct 2003) "...well written, clear, and informative...a restrained sense of excitement...permeates throughout...clearly...a solid contribution to the discourse." (Nature Biotechnology, May 1, 2003) "...chapters offer fascinating glimpses into fields that may not be familiar to geneticists, genomicists, or clinicians...they will be informative...and provide a reminder that many people outside this field are going to be paying a lot of attention as discoveries...are reported." (New England Journal of Medicine, July 24, 2003) "...an excellent summary of aspects of phamacogenomics...a solid reference for those working in the field and a unique textbook for those new to the subject area." (Clinical Chemistry, Vol. 49, No. 9) "...a welcome addition to the growing body of literature...highly recommended for anyone with an interest in the field...should be required reading for anyone conducting pharmacogenomic research and for all clinicians who use pharmacogenomics..." (Journal of Pharmacy Technology, Vol. 19September/October 2003) "...addresses the ethical, legal, and social implications of the individualized medicine that pharmacogenomics stands to create..." (Genetic Engineering News, Vol 23(14), 2003)Table of ContentsForeword (F. Collins). Preface. PART I: INTRODUCTION: SCIENCE AND SOCIETY. Public Attitudes About Pharmacogenomics (M. Rothstein, et al.). Pharmacogenomics: Pharmacology and Toxicology in the Genomics (H. Mohrenweiser). The Implications of Population Genetics for Pharmacogenomics (C. Hanis). PART II: RESEARCH AND DEVELOPMENT CHALLENGES AND CONSIDERATIONS. Genome Research and Minorities (H. Greely). Drug Development Strategies (P. Manasco & T. Arledge). Drug Development, Regulation, and Genetically Guided Therapy Pharmacogenomics (D. Feigal & S. Gutman). Intellectual Property and Commercial Aspects of Pharmacogenomics (A. Nunnally, et al.). PART III: CLINICAL APPLICATIONS. Integration of Pharmacogenomics into Medical Practice (G. Omenn & A. Motulsky). Clinical Utility Pharmacogenetics and Pharmacogenomics (N. Holtzman). Medical Liability for Pharmacogenomics (L. Palmer). The Challenges of Pharmacogenomics for Pharmacy Education, Practice, and Regulation (D. Brushwood). PART IV: THE SOCIAL DIMENSION. Economic Implications of Pharmacogenomics (C. Reeder & W. Dickson). Pharmacogenomics and the Social Construction of Identity (M. Foster). Pharmacogenomics: Considerations for Communities of Color (L. Nsiah-Jefferson). Constitutional Issues in the Use of Pharmacogenomic Variations Associated with Race (J. Robertson). PART V: EPILOGUE: POLICY PRESCRIPTIONS (M. Rothstein). Pharmacogenomics and Minority Populations: General Population Survey Questionnaire (M. Rothstein). Index.

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Book SynopsisGenomics and Proteomics Engineering in Medicine and Biology highlights current applications of biomedical informatics, as well as advancements in genomics-proteomics areas. Structures and algorithms are used to analyze genomic data and develop computational solutions for pathological understanding.Table of ContentsPreface. Contributors. 1. Qualitative Knowledge Models in Functional Genomics and Proteomics (Mor Peleg, Irene S. Gabashvili, and Russ B. Altman). 1.1. Introduction. 1.2. Methods and Tools. 1.3. Modeling Approach and Results. 1.4. Discussion. 1.5. Conclusion. References. 2. Interpreting Microarray Data and Related Applications Using Nonlinear System Identification (Michael Korenberg). 2.1. Introduction. 2.2. Background. 2.3. Parallel Cascade Identification. 2.4. Constructing Class Predictors. 2.5. Prediction Based on Gene Expression Profiling. 2.6. Comparing Different Predictors Over the Same Data Set. 2.7. Concluding Remarks. References. 3. Gene Regulation Bioinformatics of Microarray Data (Gert Thijs, Frank De Smet, Yves Moreau, Kathleen Marchal, and Bart De Moor). 3.1. Introduction. 3.2. Introduction to Transcriptional Regulation. 3.3. Measuring Gene Expression Profiles. 3.4. Preprocessing of Data. 3.5. Clustering of Gene Expression Profiles. 3.6. Cluster Validation. 3.7. Searching for Common Binding Sites of Coregulated Genes. 3.8. Inclusive: Online Integrated Analysis of Microarray Data. 3.9. Further Integrative Steps. 3.10. Conclusion. References. 4. Robust Methods for Microarray Analysis (George S. Davidson, Shawn Martin, Kevin W. Boyack, Brian N. Wylie, Juanita Martinez, Anthony Aragon, Margaret Werner-Washburne, Mo´nica Mosquera-Caro, and Cheryl Willman). 4.1. Introduction. 4.2. Microarray Experiments and Analysis Methods. 4.3. Unsupervised Methods. 4.4. Supervised Methods. 4.5. Conclusion. References. 5. In Silico Radiation Oncology: A Platform for Understanding Cancer Behavior and Optimizing Radiation Therapy Treatment (G. Stamatakos, D. Dionysiou, and N. Uzunoglu). 5.1. Philosophiae Tumoralis Principia Algorithmica: Algorithmic Principles of Simulating Cancer on Computer. 5.2. Brief Literature Review. 5.3. Paradigm of Four-Dimensional Simulation of Tumor Growth and Response to Radiation Therapy In Vivo. 5.4. Discussion. 5.5. Future Trends. References. 6. Genomewide Motif Identification Using a Dictionary Model (Chiara Sabatti and Kenneth Lange). 6.1. Introduction. 6.2. Unified Model. 6.3. Algorithms for Likelihood Evaluation. 6.4. Parameter Estimation via Minorization–Maximization Algorithm. 6.5. Examples. 6.6. Discussion and Conclusion. References. 7. Error Control Codes and the Genome (Elebeoba E. May). 7.1. Error Control and Communication: A Review. 7.3. Reverse Engineering the Genetic Error Control System. 7.4. Applications of Biological Coding Theory. References. 8. Complex Life Science Multidatabase Queries (Zina Ben Miled, Nianhua Li, Yue He, Malika Mahoui, and Omran Bukhres). 8.1. Introduction. 8.2. Architecture. 8.3. Query Execution Plans. 8.4. Related Work. 8.5. Future Trends. References. 9. Computational Analysis of Proteins (Dimitrios I. Fotiadis, Yorgos Goletsis, Christos Lampros, and Costas Papaloukas). 9.1. Introduction: Definitions. 9.2. Databases. 9.3. Sequence Motifs and Domains. 9.4. Sequence Alignment. 9.5. Modeling. 9.6. Classification and Prediction. 9.7. Natural Language Processing. 9.8. Future Trends. References. 10. Computational Analysis of Interactions Between Tumor and Tumor Suppressor Proteins (E. Pirogova, M. Akay, and I. Cosic). 10.1. Introduction. 10.2. Methodology: Resonant Recognition Model. 10.3. Results and Discussions. 10.4. Conclusion. References. Index. About the Editor.

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Book SynopsisAs with all biotechnologies in the midst of rapid growth, nutrigenomics faces ethical, legal, and social implications that are likely to affect the public and the medical community. This title identifies and examines the anticipated risks and expected benefits of nutrigenomics from an ethical perspective.Trade Review"…a worthy acquisition for any medical library…along with students and instructors in nutrition and health care." (CHOICE, June 2007) "This concise overview of nutritional genomics covers a variety of topics surrounding this controversial topic." (Doody's Health Services)Table of ContentsPreface. Acknowledgments. 1 NUTRITIONAL GENOMICS: OPPORTUNITIES AND CHALLENGES. 1.1 Introduction. 1.2 What is Nutritional Genomics? 1.3 Methodology and Approach of this Book. 1.4 Opportunities and Challenges for Nutrigenomics. 1.4.1 Improved health. 1.4.2 Personalized dietary advice. 1.4.3 Improved diet. 1.4.4 More development of health-enhancing food products. 1.4.5 Consumer empowerment. 1.4.6 Reducing health disparities. 1.4.7 Health care savings. 1.5 Challenges and a Road Map of This Book. References. 2 THE SCIENCE OF NUTRIGENOMICS AND NUTRIGENETICS. 2.1 Introduction. 2.2 The Scientific Context. 2.2.1 Nutrigenomics. 2.2.2 Nutrigenetics. 2.3 The Case of MTHFR. 2.4 Room for Improvement. 2.4.1 Study design. 2.4.2 Epigenetics. 2.4.3 SNPs and haplotypes. 2.4.4 Dietary intake assessment. 2.4.5 Biomarkers. 2.4.6 Susceptibility and predictions. 2.4.7 Analytical and clinical validity. 2.4.8 Clinical utility. 2.5 Science and Technology Assessment. 2.6 Conclusion. References. 3 THE ETHICS OF NUTRIGENOMIC TESTS AND INFORMATION. 3.1 Introduction. 3.2 Ethical Principles. 3.3 Nutrigenomics Testing in the Clinical Setting. 3.3.1 Informed consent. 3.3.2 Confidentiality. 3.3.3 Secondary information. 3.3.4 Families. 3.3.5 Genetic testing of children and adolescents. 3.4 Use of Nutrigenomics Information for Research. 3.5 Use of Nutrigenomics Information by Private Third Parties. 3.5.1 Insurance. 3.5.2 Employment. 3.5.3 Legal and social responses to fears of discrimination. 3.6 Conclusion. References. 4 ALTERNATIVES FOR NUTRIGENOMIC SERVICE DELIVERY. 4.1 Introduction. 4.2 Considerations for Nutrigenomic Service Delivery. 4.2.1 Strength of the science. 4.2.2 Regulatory environment. 4.2.3 Human resource capacity and professional competence. 4.2.4 Funding policy. 4.2.5 Professional politics and culture. 4.2.6 Consumers and patients. 4.3 Four Alternative Models. 4.3.1 Consumer model. 4.3.2 Health practitioner model. 4.3.3 Blended models. 4.3.4 Public health model. 4.4 Conclusion. References. 5 NUTRIGENOMICS AND THE REGULATION OF HEALTH CLAIMS FOR FOODS AND DRUGS. 5.1 Introduction. 5.1.1 Genetic tests, service delivery, and genetic antidiscrimination. 5.2 Food Categories: Functional Foods, Nutraceuticals, Medicinal Foods, and Dietary Supplements. 5.2.1 Functional foods. 5.2.2 Nutraceuticals. 5.2.3 Medical or medicinal foods. 5.2.4 Dietary supplements. 5.3 Health-Related Claims Associated with Foods Compared to Drugs. 5.3.1 Structure–function claims. 5.3.2 Health claims. 5.3.3 Medical food claims. 5.3.4 Disease risk reduction claims. 5.4 Nutrigenomic Information and the Regulation of Foods Compared to Drugs. 5.4.1 The regulation of foods. 5.4.2 The regulation of drugs. 5.5 Food and Drug Regulations in Japan, the United States, and Canada. 5.5.1 Japan. 5.5.2 United States. 5.5.3 Canada. 5.6 Conclusion. References. 6 NUTRIGENOMICS: JUSTICE, EQUITY, AND ACCESS. 6.1 Introduction. 6.2 Industrialized Country Context. 6.2.1 Individualized nutrigenomic testing. 6.2.2 Population-based nutrigenomics. 6.3 Developing Country Context. 6.3.1 Individualized nutrigenomic testing. 6.4 Nutrigenomics and Intellectual Property. 6.4.1 An issue of access to scientific information. 6.5 Conclusion. References. 7 CONCLUSIONS AND RECOMMENDATIONS. 7.1 Introduction. 7.1.1 Nutrigenomic science. 7.1.2 Nutrigenomics and health information management. 7.1.3 Nutrigenomic service delivery. 7.1.4 Regulation of nutrigenomics. 7.1.5 Access and equity. 7.2 A Final Word. Index.

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Book SynopsisPopulation Genetics of Multiple Loci F.B. Christiansen University of Aarhus, Denmark "This is a very beautiful and powerful study of an area that Christiansen has dominated for many years. " - Marcus Feldman, Stanford University, USA Population genetics thrives on the constant interaction between theoretical and empirical knowledge.Trade Review"...a significant contribution to mathematical population genetics...recommended" --Monatshefte fur Mathematik, Vol 131/2, 2000 "This book makes an excellent contribution." --Genetical Research, Vol 75, 2000Table of ContentsInteractions among Genes. RECOMBINATION AND SEGREGATION. Random Mating: Sexes Equal. Random Mating: Sex Difference. Inbreeding: Partial Selfing. Migration and Mixing. Phenotypic Variation. SELECTION. Viability Selection. Symmetric Viability Selection. Fertility Selection. Mutation and Selection. Migration and Selection. Evolution of Recombination. Glossary. References. Index.

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Book SynopsisWith the advent of the Human Genome Project, the new genetics has moved to the cutting edge of science and medicine. The development and use of such genetics will have a profound impact on our understanding of disease and behaviour.Table of ContentsIntroduction: Sociological Perspectives on The New Genetics: An Overview: Peter Conrad and Jonathan Gabe. Part I: Structure and Production of Genetic Knowledge:. 1. Genes as Drugs: The Social Shaping of Gene Therapy and The Reconstruction of Genetic Disease: Paul Martin. 2. Experts as 'Storytellers' In Reproductive Genetics: Exploring Key Issues: Elizabeth Ettorre. 3. The Human Drama of Genetics: 'Hard' and 'Soft' Media Representations of Inherited Breast Cancer: Lesley Henderson and Jenny Kitzinger. Part II: The Social Meanings of Genetics:. 4. Waiting For The Cure: Mapping The Social Relations of Human Gene Therapy Research: Alan Stockdale. 5. Doing The Right Thing: Genetic Risk and Responsibility: Nina Hallowell. 6. There's This Thing In Our Family: Predictive Testing and The Construction of Risk For Huntington Disease: Susan Cox and William Mckellin. Part III: The Social Impact and Implications of Genetics:. 7. Defining The 'Social': Towards An Understanding of Scientific and Medical Discourses on The Social Aspects of The New Human Genetics: Sarah Cunningham-Burley and Anne Kerr. 8. Losing The Plot? Medical and Activist Discourses of The Contemporary Genetics and Disability: Tom Shakespeare. 9. DNA Identification and Surveillance Creep: Dorothy Nelkin and Lori Andrews. Notes on Contributors. Index.

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Book SynopsisBig data, genomics, and quantitative approaches to network-based analysis are combining to advance the frontiers of medicine as never before. With contributions from leading experts, Network Medicine introduces this rapidly evolving field of research, which promises to revolutionize the diagnosis and treatment of human diseases.Trade ReviewWhat will a human look like at molecular levels? The study behind the general concept of Network Medicine examines the effort to identify the blueprint and principles that will enable us to understand this complex life system at molecular levels. This book presents the state of the knowledge of network medicine and is an excellent reference for both experts in the area and general population interested in life science. -- Weiniu Gan, National Heart, Lung, and Blood InstituteThis book fills a gap in the literature by applying complex systems theory to the field of medicine. Such application is likely to trigger important results by promoting a very useful shift in perspective. Definitely a book to read. -- Guido Caldarelli, IMT Institute for Advanced Studies Lucca

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Book SynopsisAre reproductive and genetic technologies racing ahead of a society that is unable to establish limits to their use? This book examines the case of preimplantation genetic diagnosis (PGD), the procedure used to prevent serious genetic disease by embryo selection, and the so-called "designer baby" method.Trade Review"The book is a source of valuable messages; it provides enlightening perspectives on the political, moral and ethical aspects of PGD and highlights intriguing philosophical questions... Born and Made: An Ethnography of Preimplantation Genetic Diagnosis will constitute a valuable resource for professionals working in a variety of disciplines converging on the multidisciplinary field of assisted reproduction; at the same time, the book will benefit those who consider, or are referred for, assisted reproduction techniques."--Richard A. Stein, TRENDS in Endocrinology and MetabolismTable of ContentsList of Figures ix Acknowledgments xi Preface xv Introduction: Babies by Design? 1 Chapter 1: What Is PGD? 25 Chapter 2: Studying PGD 75 Chapter 3: Getting to PGD 94 Chapter 4: Going Through PGD 132 Chapter 5: Moving On from PGD 163 Chapter 6: Accounting for PGD 196 Conclusion: PGD Futures? 218 Appendix 231 References 233 Index 249

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Book SynopsisTrade Review"Winner of the Pfizer Award, History of Science Society""Winner of the Cheiron Book Prize, Cheiron: The International Society for the History of Behavioral & Social Sciences""One of Science News' Favorite Science Books of 2018""I suspect this bold, dauntingly well-documented book will prove difficult to dismiss."---David Dobbs, Nature"By following the technologies of paperwork and data collection, Porter has unearthed a radically new history of human genetics, one that evokes not the double helix but the humble filing cabinet."---Emily M. Kern, Science"Fascinating but scary. Genetics in the Madhouse . . . uses date collection in psychiatric hospitals to show the stages when research straddles subjectivity and science."---Liz Else and Simon Ings, New Scientist"Porter takes a fascinating look at early attempts to tame unruly minds with big data and statistics."---Bruce Bower, Science News"Deeply researched and deftly argued."---Gregory Radick, Times Literary Supplement"[An] absorbing account of the role played by mental illness studies in gaining an early understanding of human heredity."---Robin McKie, The Observer"Genetics in the Madhouse provides a fascinating examination of investigations of human heredity, conducted long before DNA could be studied in laboratories."---Glenn Altschuler, Philadelphia Inquirer"Genetics in the Madhouse has the power to inspire, to captivate and to stimulate further research."---Nicholas P. Hatton, Medical History"Porter commands an impressive array of languages, and where his own knowledge falters, he has employed assistance to allow him to survey other sources that would otherwise have remained out of reach."---Andrew Scull, Brain Journal of Neurology"Porter has read voluminously in the secondary literature historians of psychiatry have produced. But more importantly, having done so, he has engaged in a positively prodigious amount of work in the archives. One can only admire the persistence and the diligence with which he has combed through an extraordinary array of materials . . . Genetics in the Madhouse is gracefully written, and Porter only occasionally gets bogged down in the minutiae of the archival materials he has spent so much time exploring."---Andrew Scull, Brain"Porter shows that the population view of mental illness persisted throughout the history of the asylum and flowed logically into the era of eugenics. And he also illustrates that the history of madness helps expand the history of genetics beyond a narrow view of genes. . . . His history makes it impossible to continue the disconnect between the data of the past and the assertions of the present."---Laura D. Hirshbein, The Common Reader

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Book SynopsisTrade Review"Winner of the Pfizer Award, History of Science Society""Winner of the Cheiron Book Prize, Cheiron: The International Society for the History of Behavioral & Social Sciences""One of Science News' Favorite Science Books of 2018"

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Book SynopsisThis book brings together twelve chapters on fungal pathogens with the goal of presenting an overview of the current areas of activity and the common themes that pervade research on these important organisms. The timing of the book is appropriate because we have gained sufficient insight from molecular genetic analyses to begin to make some comparisons between different fungal pathogens and to discuss the key advances that have been made. The chapters provide a broad survey of the important topics in fungal pathogenesis including morphogenesis, virulence, avirulence, and signaling. The reader also will fmd clear discussions of parasitism, mutualism, symbiosis, evolution, phylogeny and ecology for those fungi where these issues are especially important. Finally, many of the chapters in this book illustrate the fact that we are on the verge of a revolution in our understanding of fungal pathogens because of the application of genomics to these organisms and their hosts. The fungi includeTrade Review`This book provides a broad spectrum of information. It is of special interest and can indeed be recommended for a readership from senior undergraduates to senior investigators working on fungal plant pathology.' Journal of Plant Physiology, 158:7 (2000) `...the volume can be recommended to the scientific community in plant pathology and especially to those interested in molecular aspects of host-pathogen interactions' Journal of Phytopathology, 149:7/8 (2001)Table of Contents1. Aspergillus Fumigatus; C. D'Enfert. 2. Infection Strategies of Botrytis cinerea and Related Necrotrophic Pathogens; T.W. Prins, et al. 3. Cladosporium fulvum, Cause of Leaf Mould of Tomato; R.P. Oliver, et al. 4. Evolution of Host Specific Virulence in Cochliobolus heterostrophus; B.G. Turgeon, S.-W. Lu. 5. Colletotrichum; M.B. Dickman. 6. Hypovirulence and Chestnut Blight: From the Field to the Laboratory; D.L. Nuss. 7. Insect Pathogenic Fungi: From Genes to Populations; M.J. Bidochka, et al. 8. Pathogenesis and Genome Organization of the Rice Blast Fungus; S. Kang, et al. 9. Phytophthora; S. Kamoun. 10. The Rust Fungi: Cytology, Physiology and Molecular Biology of Infection; M. Hahn. 11. Symbiotic Parasites and Mutualistic Pathogens; C.L. Schardl. 12. Ustilago maydis, the Causative Agent of Corn Smut Disease; R. Kahmann, et al. Index.

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Book SynopsisIt presents information on treatment: genetic counseling, pharmacotherapy, intervention, and gene therapy.Trade ReviewThis useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of the various aspects of this condition. -- William O. Walker, Jr. Doody's Health Sciences Review Includes updated chapters on the cytogenetic and molecular biology of the FXS mutation and premutation. The first half addresses the diagnosis and research aspects and is well referenced. The latter half is dedicated to treatment and intervention. The chapter that emphasizes an integrated approach to intervention could easily qualify for continuing medical education credit. Journal of the American Medical Association This book should sit on the library shelves of clinical geneticists. It is well written, well referenced, and should become well thumbed. Journal of Medical Genetics Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome... Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition. The Lancet The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them. New England Journal of Medicine This useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of teh various aspects of this condition. -- William O. Walker, Jr.MD Doody's Book Reviews I strongly encourage genetic counselors and clinical geneticists to invest in a copy of this book. It is an invaluable resource on all aspects of Fragile X syndrom from genetic counceling, molecular testing, and prenatal diagnosis, to the latest treatment, education, and interventional strategies. When searching for up-to-date information on Fragile X syndrom, this book constitutes as one-stop-shopping. -- Barbara Pettersen Journal of Genetic Counseling This book is essential on the desk of everyone committed to the care of fragile X patients and to the research of the fascinating syndrome. Human Genetics 2003Table of ContentsContents: List of Contributors Preface to the Third Edition I Diagnosis and Research 1 The Physical and Behavioral Phenotype - Randi Jenssen Hagerman 2 The Molecular Biology of the Fragile X Mutation - W. Ted Brown 3 Epidemiology - Stephanie Sherman 4 FMR1 Protein Studies and Animal Model for Fragile X Syndrome - Ben. A. Oostra and Andre T. Hoogeveen 5 Brain Structure and Functions of FMR1 Protein - Scott Irwin, Roberto Galvez, Ivan Jeanne Weiler, Andrea Beckel-Mitchener, and William Greenough 6 Neuropsychology - Loisa Bennetto and Bruce F. Pennington II Treatment and Intervention 7 Genetic Counseling - Louise W. Gane and Amy Cronister 8 Medical Follow-up and Pharmacotherapy 9 The Treatment of Emotional and Behavioral Problems - Jennifer L. Hills Epstein, Karen Riley, and William E. Sobesky 10 An Integrated Approach to Intervention - Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray 11 Academic Interventions - Marcia L. Braden 12 FMRI Gene Expression and Prospects for Gene Therapy - Paul J. Hagerman Appendix 1: General Information about Fragile X Syndrome - Susan Harris Appendix 2: Computer Software Information - Andrew Halpern, Lisa Nobel, and Kristen Gray Appendix 3: Learning Materials and Equipment - Andrew Halpern, Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray Appendix 4: Toilet Training the Child with Fragile X Syndrome - Franci Crepeau-Hobson and Rebecca O'Connor INDEX

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Book SynopsisIt presents information on treatment: genetic counseling, pharmacotherapy, intervention, and gene therapy.Trade ReviewThis useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of the various aspects of this condition. -- William O. Walker, Jr. Doody's Health Sciences Review Includes updated chapters on the cytogenetic and molecular biology of the FXS mutation and premutation. The first half addresses the diagnosis and research aspects and is well referenced. The latter half is dedicated to treatment and intervention. The chapter that emphasizes an integrated approach to intervention could easily qualify for continuing medical education credit. Journal of the American Medical Association This book should sit on the library shelves of clinical geneticists. It is well written, well referenced, and should become well thumbed. Journal of Medical Genetics Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome... Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition. The Lancet The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them. New England Journal of Medicine This useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of teh various aspects of this condition. -- William O. Walker, Jr.MD Doody's Book Reviews I strongly encourage genetic counselors and clinical geneticists to invest in a copy of this book. It is an invaluable resource on all aspects of Fragile X syndrom from genetic counceling, molecular testing, and prenatal diagnosis, to the latest treatment, education, and interventional strategies. When searching for up-to-date information on Fragile X syndrom, this book constitutes as one-stop-shopping. -- Barbara Pettersen Journal of Genetic Counseling This book is essential on the desk of everyone committed to the care of fragile X patients and to the research of the fascinating syndrome. Human GeneticsTable of ContentsContents: List of Contributors Preface to the Third Edition I Diagnosis and Research 1 The Physical and Behavioral Phenotype - Randi Jenssen Hagerman 2 The Molecular Biology of the Fragile X Mutation - W. Ted Brown 3 Epidemiology - Stephanie Sherman 4 FMR1 Protein Studies and Animal Model for Fragile X Syndrome - Ben. A. Oostra and Andre T. Hoogeveen 5 Brain Structure and Functions of FMR1 Protein - Scott Irwin, Roberto Galvez, Ivan Jeanne Weiler, Andrea Beckel-Mitchener, and William Greenough 6 Neuropsychology - Loisa Bennetto and Bruce F. Pennington II Treatment and Intervention 7 Genetic Counseling - Louise W. Gane and Amy Cronister 8 Medical Follow-up and Pharmacotherapy 9 The Treatment of Emotional and Behavioral Problems - Jennifer L. Hills Epstein, Karen Riley, and William E. Sobesky 10 An Integrated Approach to Intervention - Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray 11 Academic Interventions - Marcia L. Braden 12 FMRI Gene Expression and Prospects for Gene Therapy - Paul J. Hagerman Appendix 1: General Information about Fragile X Syndrome - Susan Harris Appendix 2: Computer Software Information - Andrew Halpern, Lisa Nobel, and Kristen Gray Appendix 3: Learning Materials and Equipment - Andrew Halpern, Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray Appendix 4: Toilet Training the Child with Fragile X Syndrome - Franci Crepeau-Hobson and Rebecca O'Connor INDEX

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Book SynopsisPresenting a wide array of perspectives, this book emphasizes the need to ensure that research into genetics research does not result in discrimination against people on the basis of their DNA.Trade ReviewBringing the concerns of different communities together in a single volume makes it possible to appreciate the mosaic of human issues more fully and forces us to anticipate the challenges that may arise-and that will require our attention-as the genetic revolution proceeds... A much needed antidote to the current genetic hoopla. -- Doris Teichler Zallen Journal of the American Medical Association A cautious look at the effects of genetic discoveries on society... The issues raised by this book are valid, and all scientists should be aware of them. I often found myself nodding in agreement. -- Jeffrey C. Long New England Journal of Medicine The authors present several thought-provoking issues in regard to prenatal genetic screening and selective abortion. It's a great contribution to the field. -- Fernando I. Rivera Contemporary Sociology This book superbly and successfully fills its purpose-to show the need for dialogue between researchers, health care professionals, communities, and individuals regarding various aspects of genetic technology. Choice 2003

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Book SynopsisEdited by leaders in the field, written by experts from around the globe, and brimming with full-color illustrations, Genomic Medicine is an indispensable guide to the full potential of the DNA-based transformation of medicine.Trade ReviewAn indispensable guide to the full potential of the DNA-based transformation of medicine. Human Reproduction and Genetic Ethics The editors have assembled a fine set of short, readable and highly authoritative articles by eminent authors. The book is beautifully produced and will give an accessible entry into genetic medicine to its target audience of non-specialist clinicians. Readers of this journal will need no persuading of the fascination and ever growing importance of genetic medicine and these themes are well communicated. -- Andrew P. Read Human Genetics 2004Table of ContentsForewordPrefaceList of Contributors GlossaryChapter 1. Getting Ready for Gene-Based MedicineChapter 2. Genomic Medicine – A PrimerChapter 3. Genetic TestingChapter 4. Population Screening in the Age of Genomic Medicine Chapter 5. Inheritance and Drug Response Chapter 6. Pharmacogenomics – Drug Disposition, Drug Targets, and Side EffectsChapter 7. Pharmacogenetics in the Laboratory and the Clinic Chapter 8. Hereditary Colorectal CancerChapter 9. Alzheimer's Disease and Parkinson's DiseaseChapter 10. Molecular Diagnosis of the Hematologic CancersChapter 11. Breast and Ovarian CancerChapter 12. Cardiovascular DiseaseChapter 13. Ethical, Legal, and Social Implications of Genomic MedicineChapter 14. Genomics as a Probe for Disease Biology Chapter 15. Welcome to the Genomic EraIndex

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Book SynopsisThis book is indispensable for students working in a laboratory setting or studying free-ranging populations.Trade Review"John Gillespie has done the near-impossible, condensing the essence of population genetics into a very short book. The result is a little gem. The derivations are simple and clear, and often strikingly original. The minor gaps in the first edition are filled by this equally concise second edition. Population genetics is a complicated subject; only a person of Gillespie's depth of knowledge and insight could simplify without distorting." - James F. Crow, author of Genetics Notes "The book is coherently and logically structured and covers all the most important and incontrovertible aspects of population genetics... I recommend this as a good introductory book that can be used in both undergraduate and graduate courses." - Heredity "A well-developed, thoughtful, and classic book that has been tested and improved through many years in the classroom... A 'must' for anyone interested in plant or animal genetics." - Choice"Table of ContentsList of FiguresPrefaceChapter 1. Genetic VariationChapter 2. Genetic DriftChapter 3. Natural SelectionChapter 4. Two-Locus DynamicsChapter 5. Nonrandom MatingChapter 6. Quantitative GeneticsChapter 7. The Evolutionary Advantage of SexAppendix A. Mathematical NecessitiesAppendix B. ProbabilityBibliography Index

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Book SynopsisLindee's pathbreaking study shows the interdependence of technical and social parameters in contemporary biomedicine.Trade ReviewThese fascinating, well-written stories portray what it is like to work in human or medical genetics, both in the clinic and as a researcher. -- Uta Francke Nature 2006 As difficult as it is to pinpoint the key events in history, Lindee manages this well, singling out and humanising the most important events and players. -- Lindsay Banham Lancet 2006 This history will reward anyone interested in the paths from gene discoveries to cures or the potential for genomic medicine. Science 2006 Captures the complexities of research on genetic disease while prompting us to reconsider the distribution of scientific authority and the dynamics of knowledge production. -- Michael R. Dietrich New England Journal of Medicine 2006 An elegant, accessible, even thrilling book that is itself a moment of historical truth and a must-read. -- Alice Wexler Bulletin of the History of Medicine 2006 An important contribution to our understanding of the making of the future of medicine, not just substantively, but methodologically as well. -- Paolo Palladino Journal of History of Biology 2006 Provocative and thoughtful... An important and interesting exploration of post-World War II genetics and its impact on the current revolution in genetics and biology. -- Michael Yudell Journal of the History of Medicine and Allied Sciences 2006 Lindee argues that the production of scientific knowledge is a community project involving not just researchers, but also research subjects, patients and their families... The resulting insight into the structure and organization of contemporary biomedicine is one of the chief contributions of this original and important new book. -- Diane Paul Medical History 2007 Moments of Truth in Genetic Medicine opens up an important area of contemporary biomedicine, the 'genetization' of disease, to historical scrutiny, looking for decisive turning points far beyond the narrow confines of molecular genetics. Written in a highly accessible style, it will be of interest to anyone concerned with the making of biomedical knowledge, genetic and otherwise. -- Soraya de Chadarevian Isis 2007 A fascinating and thorough job of summarizing the emergence of human genetics from an almost totally ignored discipline to its current position as one of the most high-profile biomedical and societal endeavors. -- Ronald G. Davidson American Journal of Medical Genetics Part A 2006 Thoughtful book... Raises novel issues about the rise of genetic knowledge and formulates questions and strategies that are critical to understanding both the past and future of genetic medicine. -- Stephen Pemberton History and Philosophy of the Life Sciences 2006 A 'must' for any health library concerned with health history, particularly at the college level. Midwest Book Review 2009Table of ContentsAcknowledgments1. Introduction2. Babies' Blood: Phenylketonuria and the Rise of Public Health Genetics3. Provenance and the Pedigree: Victor McKusick's Field Work with the Pennsylvania Amish4. Squashed Spiders: Standardizing the Human Chromosomes and Other Unruly Things5. Two Peas in a Pod: Twin Science and the Rise of Human Behavior Genetics6. Jewish Genes: History, Emotion, and Familial Dysautonomia7. ConclusionNotesEssay on SourcesBibliographyIndex

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Book SynopsisWith Tay-Sachs, cystic fibrosis, and sickle cell disease as a powerful backdrop, the authors provide a glimpse into a diverse America where racial ideologies, cultural politics, and conflicting beliefs about the power of genetics shape disparate health care expectations and experiences.Trade ReviewConcise and well-argued... essential reading for anyone interested in genetics, disease, and the meaning of race. Science 2006 Practitioners of the future will have to take these separate histories into account as this new era unfolds. -- Doris Teichler Zallen, PhD JAMA 2006 Fascinating. -- Jackie Leach Scully Social History of Medicine 2007 Perfectly suited for use in teaching the history of medicine and health... At once concise, readable, and demanding in its parsimony. It should not be missed by anyone who cares about the emerging shape of health care in the age of genomic medicine. -- Christopher Crenner Journal of the History of Medicine 2008 Offers interesting information and pertinent discussions... The book deserves to be read by a large public. -- Michel Morange Isis 2008 The Troubled Dream of Genetic Medicine brings into focus intriguing concepts at the intersection of science and society... This book ought to encourage others to produce biosocial histories of this kind. -- Abidemi Adegbola, M.D. Child and Adolescent Psychiatry 2009Table of ContentsAcknowledgmentsIntroduction: Ethnic Symbols in Conflicted Times1. Eradicating a ''Jewish Gene'': Promises and Pitfalls in the Fight against Tay-Sachs Disease2. Risky Business in White America: Gene Therapy and Other Ventures in the Treatment of Cystic Fibrosis3. A Perilous Lottery for the Black Family: Sickle Cells, Social Justice, and the New Therapeutic GambleConclusion: Dreams amid DiversityNotesGlossaryIndex

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Book SynopsisWith Tay-Sachs, cystic fibrosis, and sickle cell disease as a powerful backdrop, the authors provide a glimpse into a diverse America where racial ideologies, cultural politics, and conflicting beliefs about the power of genetics shape disparate health care expectations and experiences.Trade ReviewConcise and well-argued... essential reading for anyone interested in genetics, disease, and the meaning of race. Science 2006 Practitioners of the future will have to take these separate histories into account as this new era unfolds. -- Doris Teichler Zallen, PhD JAMA 2006 Fascinating. -- Jackie Leach Scully Social History of Medicine 2007 Perfectly suited for use in teaching the history of medicine and health... At once concise, readable, and demanding in its parsimony. It should not be missed by anyone who cares about the emerging shape of health care in the age of genomic medicine. -- Christopher Crenner Journal of the History of Medicine 2008 Offers interesting information and pertinent discussions... The book deserves to be read by a large public. -- Michel Morange Isis 2008 The Troubled Dream of Genetic Medicine brings into focus intriguing concepts at the intersection of science and society... This book ought to encourage others to produce biosocial histories of this kind. -- Abidemi Adegbola, M.D. Child and Adolescent Psychiatry 2009Table of ContentsAcknowledgmentsIntroduction: Ethnic Symbols in Conflicted Times1. Eradicating a ''Jewish Gene'': Promises and Pitfalls in the Fight against Tay-Sachs Disease2. Risky Business in White America: Gene Therapy and Other Ventures in the Treatment of Cystic Fibrosis3. A Perilous Lottery for the Black Family: Sickle Cells, Social Justice, and the New Therapeutic GambleConclusion: Dreams amid DiversityNotesGlossaryIndex

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Book SynopsisConcluding with a cautionary call for increased regulation, Reprogenetics introduces fact, history, and reason into a public discussion of complex and vexing issues.Trade ReviewAn essential reference, this also will extend into classroom discussion and debates. Midwest Book Review 2007 A useful addition to the library of anyone interested in reprogenetics and particularly the future of legislation and policy on research and application of reprogenetic technology. -- Constance Perry, Ph.D. Metapsychology 2008Table of ContentsList of ContributorsPrefacePart I: The Historical and Regulatory LandscapeChapter 1. On Drawing Lessons from the History of EugenicsChapter 2. Governmental Regulation of Genetic Technology, and the Lessons LearnedChapter 3. Oversight of Assisted Reproductive Technologies: The Last Twenty YearsPart II: Ethical Issues in ReprogeneticsChapter 4. Market Transactions in Reprogenetics: A Case for RegulationChapter 5. Stem Cells, Clones, Consensus, and the LawPart III: International Regulation of Reprogenetics Chapter 6. The Governance of Reprogenetic Technology: International ModelsChapter 7. Regulating Reprogenetics in the United KingdomChapter 8. The Evolution of Public Policy on Reprogenetics in CanadaPart IV: Regulating Reprogenetics in the United StatesChapter 9. A Brief History of Public Debate about Reproductive Technologies: Politics and CommissionsChapter 10. Possible Policy Strategies for the United States: Comparative LessonsChapter 11. The Development of Reprogenetic Policy and Practice in the United States: Looking to the United KingdomChapter 12. Reprogenetics and Public Policy: Reflections and RecommendationsIndex

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Book SynopsisShannon, Richard L. Sprott, Rosemarie Tong, Laurie ZolothTrade ReviewThis is a brilliant and useful book that summarizes much information from different points of view into a unified whole... So vibrant in its clarity,, so audacious in its thinking, it adds much to the luster of this remarkable book, one that deserves a wide readership. Doody's Review Service 2008 A comprehensive yet concise, simple-to-read synopsis of the issue involving modern biotechnology/aging research... Highly recommended. Choice 2009 A thought-provoking starting point for anyone interested in the varied and reciprocal implications of population aging and developments in biotechnology. -- Stephen J. Cutler, PhD Gerontologist 2009 An approachable... collection of essays -- Gareth Southwell Metapsychology 2009Table of ContentsPrefaceList of Contributors Part I: IntroductionChapter 1. Reality check: What Is Genetic Research on Aging Likely to Produce, and What Are the Ethical and Clinical Implications of Those Advances? Chapter 2. Meeting the Challenges of a Diverse Aging SocietyPart II: ImmortalityChapter 3. Immortality Through cloning? Reproduction, Regeneration, and the PosthumanChapter 4. The Transhumanist Movement: A Flawed Response to Aging and Its Natural ConsequenceChapter 5. Stem cell Research and InterventionChapter 6. The Ethical, Legal, and Social Implications of Antiaging TechnologiesChapter 7. Stem Cells and Aging: Quality and Quantity of Life in an Unjust World Part III: CentenariansChapter 8. Centenarians and GeneticsChapter 9. What Can We learn From Centenarians? Chapter 10. A Developmental Perspective on Aging and Genetic Technology: A Response to Studies of CentenariansPart IV: Genetic TestingChapter 11. Genetic Testing for Alzheimer Disease: The REVEAL Study Chapter 12. The Implications of Genetic testing for Alzheimer DiseaseChapter 13. Genetic Susceptibility to Alzheimer DiseaseChapter 14. Psychological Issues in Genetic TestingChapter 15. Genotype, Phenotype, and Primary care: Why the New Genetics Technology Is Not Ready for Primary Care Part V: Ethical and Social PerspectivesChapter 16. Genetics, Aging, and Primary care: Ethical Implications for CliniciansChapter 17. Aging, Genetics, and Social JusticeChapter 18. The Ethics of Aging: Question of Ends at the End of LifeChapter 19. A Lonely New World—or Me, Myself, and IIndex

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Book SynopsisD., University of WashingtonTrade ReviewEthics and Newborn Genetic Screening... brings together some of the best minds and clearest thinking on the issues at stake. -- Fiona Alice Miller American Journal of Human Genetics 2009

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Book Synopsis“Extraordinary and wide-ranging . . . a literary feat that simultaneously builds and excavates identity.”—The New York Times Book Review (Editors’ Choice)  Roxane Gay’s Audacious Book Club Pick • Finalist for the National Book Critics Circle’s John Leonard Prize • An acclaimed writer goes searching for the truth about her complicated Southern family—and finds that our obsession with ancestors opens up new ways of seeing ourselves—in this “brilliant mix of personal memoir and cultural observation” (The Boston Globe). ONE OF THE BEST BOOKS OF THE YEAR: The New Yorker, NPR, Time, Entertainment Weekly, The Washington Post, The Boston Globe, The Atlanta Journal-Constitution, Esquire, Garden & GunMaud Newton’s ancestors have fascinated her since she was a girl. Her mother’s father was said to have married thirteen

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Book SynopsisSharon R. Kaufman examines the quandary of patients, families and doctors not knowing the point where enough medical treatment becomes too much treatment. A hidden chain of drivers among science, industry, new technology, and insurance spur this quandary, serving to obscure the ability to identify the difference between extraordinary and ordinary medicine.Trade Review“Medical anthropologist Kaufman bravely delves into the heartbreaking predicament of modern medicine: ‘getting the medicine we wish for but then having to live with the unsettling and far-ranging consequences.’ … Kaufman is at her best when focusing on the heartbreaking dilemma of patients dealing with the consequences of ordinary medicine, such as an elderly patient who must choose between lifesaving treatments or palliative care, facing repeated hospital visits regardless of the choice. Kaufman calls for no less than making the ethics of medicine the ‘preeminent topic of our national conversation about health care reform.’” * Publishers Weekly *(Starred Review) “What makes Kaufman's analysis distinctive is the way she demonstrates the effects of Medicare policy on treatment benefits—namely, if a patient on Medicare is eligible for treatment, providers are often willing to supply it. But the author notes that this way of thinking has led us to stop examining issues around quality of life, obligations to our families, and the inevitable prospect that we will die. Health-care professionals, students of medical ethics, and others interested in the actions that frame American medicine will find this a thought-provoking read." -- Aaron Klink * Library Journal *“If Gawande’s is the voice of comfort, and simple yet vital solutions, Sharon Kaufman’s brings her characteristic analytic and ethical precision, eschewing easy answers for an assessment of the structural density of our current predicament. Anyone who has read her earlier book on end-of-life care in American hospitals, And a Time to Die: How American Hospitals Shape the End of Life, will be familiar with her tremendous ability to narrate the ambiguities of American medicine as it unfolds on the ground via the stories of people who are caught up in its contradictions.” -- Julie Livingston * Public Books *"The elegant part of Kaufman’s analysis—of a kind maybe only a sharp-eyed anthropologist with a wide lens can provide—concerns the way we all become unwitting victims of the chain, wrapped tightly around us.... Is there any good news here? Yes, Sharon Kaufman has written a wonderful, necessary, and readable book, and that is a start." -- Daniel Callahan * Hastings Center Report *"Fascinating.... The book is written in a lucid and highly readable style, case studies of patients bringing the ‘health care system’ vividly alive through thick description.... The ethical dilemmas, small and large simultaneously, gripped me such that on two consecutive readings I found myself sitting up late into the night unable to put it down." -- Susan Pickard * Social History of Medicine *"Kaufman delivers a haunting and provocative meditation on the peculiarly American obsession with highly technologized longevity. Through a combination of historical analyses of debates in health policy and health economics, bioethical argumentation, and powerful ethnographic examples, Kaufman meticulously demonstrates the rise over the past few decades of what she calls ordinary medicine.... Kaufman’s book constitutes an important and troubling addition to current bioethical debates on health financing and the distribution of medical resources. At its heart, this book seems to be about how and why US health care costs have spiraled out of control—a topic of great timeliness and political interest." -- Katherine A. Mason * American Ethnologist *"A must read for all practitioners and people experiencing the end of life.... Kaufman does a good job discussing the four outside issues that impact medicine today: the biomedical research industry, which pours out expensive new treatments; the determination of what treatments will be ordered according to what insurance or Medicare will reimburse for; evidence supporting a treatment’s use, causing it to become standard care for all; and the ethical imperative that if something is standard, everyone should receive it. Kaufman also provides several scenarios and an extensive bibliography. This book should be required reading for every health care provider. Highly recommended. Upper-division undergraduates through professionals/practitioners" -- S. C. Grossman * Choice *"The strengths of this revealing study derive from Kaufman’s analysis of the chain of drivers that creates unprecedented growth in medical treatments; compelling evidence from case studies; multiple perspectives of physicians and other health care personnel, patients, and their families; and the questions raised about drawing the line. This book will create a deeper understanding of the expanding possibilities for medical treatments and the implications for the health care system." -- Joanne McCloskey * Journal of Anthropological Research *"[T]his is a book whose moral passion is palpable, and admirable for just that reason, as well as for its excellent scholarship. Yet, it is Kaufman’s careful, insightful observations that carry us beyond her undeniably excellent analysis." -- David Schenck * Society *"Overall, Kaufman’s latest book is moving to read and sets out the dilemmas of aging and dying within the American healthcare system.... I would recommend that anthropologists and healthcare professionals read her book to reflect on the healthcare practices they are part of and observe." -- Erica Borgstrom * Anthropology and Medicine *Table of ContentsAcknowledgments ix Introduction. Diagnosing Twenty-First-Century Health Care 1 Part I: The Quandry and Unexamined Ordinariness of Twenty-First-Century Medicine 1. Ordinary Medicine in Our Aging Society: The Dilemma of Longevity 21 Part II. The Chain of Health Care Drivers 2. The Medical-Industrial Complex I: Evidence-Based Medicine, the Biomedical Economy, and the Ascendance of Clinical Trials 53 3. The Medical-Industrial Complex II: Access, Industry, and the Clincial Trials Phenomenon 79 4. "Reimbursement Is Critical for Everything": Medicare and the Ethics of Managing Life 99 Part III: Medicine's Changing Means and Ends 5. Standard and Necessary Treatments: The Changing Means and Ends of Technology 127 6. Family Matters: Kidneys and New Forms of Care 165 7. Influencing the Character of the Future: Prognosis, Risk, and Time Left 195 8. For Whose Benefit? Our Shared Quandary 217 Conclusion. Toward a New Social Contract? 238 Notes on the Research 249 Notes 255 Bibliography 285 Index 307

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Book SynopsisSharon R. Kaufman examines the quandary of patients, families and doctors not knowing the point where enough medical treatment becomes too much treatment. A hidden chain of drivers among science, industry, new technology, and insurance spur this quandary, serving to obscure the ability to identify the difference between extraordinary and ordinary medicine.Trade Review“Medical anthropologist Kaufman bravely delves into the heartbreaking predicament of modern medicine: ‘getting the medicine we wish for but then having to live with the unsettling and far-ranging consequences.’ … Kaufman is at her best when focusing on the heartbreaking dilemma of patients dealing with the consequences of ordinary medicine, such as an elderly patient who must choose between lifesaving treatments or palliative care, facing repeated hospital visits regardless of the choice. Kaufman calls for no less than making the ethics of medicine the ‘preeminent topic of our national conversation about health care reform.’” * Publishers Weekly *(Starred Review) “What makes Kaufman's analysis distinctive is the way she demonstrates the effects of Medicare policy on treatment benefits—namely, if a patient on Medicare is eligible for treatment, providers are often willing to supply it. But the author notes that this way of thinking has led us to stop examining issues around quality of life, obligations to our families, and the inevitable prospect that we will die. Health-care professionals, students of medical ethics, and others interested in the actions that frame American medicine will find this a thought-provoking read." -- Aaron Klink * Library Journal *“If Gawande’s is the voice of comfort, and simple yet vital solutions, Sharon Kaufman’s brings her characteristic analytic and ethical precision, eschewing easy answers for an assessment of the structural density of our current predicament. Anyone who has read her earlier book on end-of-life care in American hospitals, And a Time to Die: How American Hospitals Shape the End of Life, will be familiar with her tremendous ability to narrate the ambiguities of American medicine as it unfolds on the ground via the stories of people who are caught up in its contradictions.” -- Julie Livingston * Public Books *"The elegant part of Kaufman’s analysis—of a kind maybe only a sharp-eyed anthropologist with a wide lens can provide—concerns the way we all become unwitting victims of the chain, wrapped tightly around us.... Is there any good news here? Yes, Sharon Kaufman has written a wonderful, necessary, and readable book, and that is a start." -- Daniel Callahan * Hastings Center Report *"Fascinating.... The book is written in a lucid and highly readable style, case studies of patients bringing the ‘health care system’ vividly alive through thick description.... The ethical dilemmas, small and large simultaneously, gripped me such that on two consecutive readings I found myself sitting up late into the night unable to put it down." -- Susan Pickard * Social History of Medicine *"Kaufman delivers a haunting and provocative meditation on the peculiarly American obsession with highly technologized longevity. Through a combination of historical analyses of debates in health policy and health economics, bioethical argumentation, and powerful ethnographic examples, Kaufman meticulously demonstrates the rise over the past few decades of what she calls ordinary medicine.... Kaufman’s book constitutes an important and troubling addition to current bioethical debates on health financing and the distribution of medical resources. At its heart, this book seems to be about how and why US health care costs have spiraled out of control—a topic of great timeliness and political interest." -- Katherine A. Mason * American Ethnologist *"A must read for all practitioners and people experiencing the end of life.... Kaufman does a good job discussing the four outside issues that impact medicine today: the biomedical research industry, which pours out expensive new treatments; the determination of what treatments will be ordered according to what insurance or Medicare will reimburse for; evidence supporting a treatment’s use, causing it to become standard care for all; and the ethical imperative that if something is standard, everyone should receive it. Kaufman also provides several scenarios and an extensive bibliography. This book should be required reading for every health care provider. Highly recommended. Upper-division undergraduates through professionals/practitioners" -- S. C. Grossman * Choice *"The strengths of this revealing study derive from Kaufman’s analysis of the chain of drivers that creates unprecedented growth in medical treatments; compelling evidence from case studies; multiple perspectives of physicians and other health care personnel, patients, and their families; and the questions raised about drawing the line. This book will create a deeper understanding of the expanding possibilities for medical treatments and the implications for the health care system." -- Joanne McCloskey * Journal of Anthropological Research *"[T]his is a book whose moral passion is palpable, and admirable for just that reason, as well as for its excellent scholarship. Yet, it is Kaufman’s careful, insightful observations that carry us beyond her undeniably excellent analysis." -- David Schenck * Society *"Overall, Kaufman’s latest book is moving to read and sets out the dilemmas of aging and dying within the American healthcare system.... I would recommend that anthropologists and healthcare professionals read her book to reflect on the healthcare practices they are part of and observe." -- Erica Borgstrom * Anthropology and Medicine *Table of ContentsAcknowledgments ix Introduction. Diagnosing Twenty-First-Century Health Care 1 Part I: The Quandry and Unexamined Ordinariness of Twenty-First-Century Medicine 1. Ordinary Medicine in Our Aging Society: The Dilemma of Longevity 21 Part II. The Chain of Health Care Drivers 2. The Medical-Industrial Complex I: Evidence-Based Medicine, the Biomedical Economy, and the Ascendance of Clinical Trials 53 3. The Medical-Industrial Complex II: Access, Industry, and the Clincial Trials Phenomenon 79 4. "Reimbursement Is Critical for Everything": Medicare and the Ethics of Managing Life 99 Part III: Medicine's Changing Means and Ends 5. Standard and Necessary Treatments: The Changing Means and Ends of Technology 127 6. Family Matters: Kidneys and New Forms of Care 165 7. Influencing the Character of the Future: Prognosis, Risk, and Time Left 195 8. For Whose Benefit? Our Shared Quandary 217 Conclusion. Toward a New Social Contract? 238 Notes on the Research 249 Notes 255 Bibliography 285 Index 307

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